Canonical Allele Identifier: PA658800574
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519758
ClinVar RCV Id: RCV000781359 RCV001377643 RCV003476883 RCV002314349
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys763Arg
CA392335589
NM_000138.5:c.2287T>C